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| Incidentalome v0.372 | PCP4 | Zornitza Stark Marked gene: PCP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.372 | PCP4 | Zornitza Stark Gene: pcp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.372 | PCP4 |
Zornitza Stark gene: PCP4 was added gene: PCP4 was added to Incidentalome. Sources: Literature Mode of inheritance for gene: PCP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCP4 were set to 39852553 Phenotypes for gene: PCP4 were set to Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related Review for gene: PCP4 was set to RED Added comment: PMID 39852553 reports 4 individuals from a large ALS cohort with a heterozygous intronic loss‑of‑function variant. The variant creates a cryptic exon and premature termination codon; functional assays (minigene splicing, splicing‑motif analysis, neuronal knockdown and rescue) support a loss‑of‑function (haploinsufficiency) mechanism. Detailed clinical phenotyping and segregation data are limited. Sources: Literature |
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